Endocrine Abstracts

Neonatal salt wasting can present in neonates with a life-threatening state of hyponatraemia, hyperkalaemia, dehydration and metabolic acidosis. The differential diagnosis of neonatal salt wasting includes congenital adrenal hyperplasia (CAH) most commonly due to 21-hydroxylase deficiency, pseudohypoaldosteronism (PHA), X-linked adrenal hypoplasia congenital (AHC) and aldosterone synthase defects. Diagnostic work up should include serum measurement of ACTH, Cortisol, 17OH-prog...

A 13 year old female presented with a two day history of abdominal pain and vomiting which responded to analgesia. Pelvic ultrasound showed complex ovarian cysts and a pre-pubertal uterus. Initial blood tests were consistent with hypergonadotrophic hypogonadism (LH 31.5 U/l, FSH 14.3 U/l and oestradiol <70 pmol/l) and karyotype was 46 XX. Bone age was slightly delayed (measured 12.4 years, chronological age 13.7 years). On referral to paediatric endocrinology, the patient ...

Introduction: 99m/Tc-MIBI parathyroid scintigraphy (MIBI) is the most common test used for pre-operative localization of parathyroid adenoma in primary hyperparathyroidism. We evaluated the influence of serum calcium and parathyroid hormone (PTH) levels on sensitivity of MIBI imaging in successful parathyroid localisation in patients identified as having primary hyperparathyroidism.Methods and material: Retrospective review of 403 patients who had MIBI s...

Case history: 22 year old female presented with left sided hemiparesis following a generalised seizure; the blood glucose was 1.2 mmol/l. Corrective treatment restored cerebral function. In the preceding 6 months, she had symptoms of drowsiness on waking which corrected with sugary drinks and described tiredness with lethargy. There had been no reported change in appetite or bowel habits however, there had been a degree of weight loss during this period. During hospital admiss...

Case history: A clinically euthyroid 7-year-old boy was noted to have a persistently elevated TSH 7.35–14 mU/l (NR 0.27–4.2) and normal FT4 15.0 pmol/l (NR 10-24) with negative anti-thyroid peroxidase antibodies. Thyroid ultrasonography revealed a eutopically-located thyroid gland of normal size. Following commencement of levothyroxine, he developed insomnia, irritability and headaches, resulting in cessation of treatment. Growth and development proceeded ...

Background: Pancreatic neuroendocrine tumours (pNETs) are commonly reported in patients with MEN1. The estimated incidence is reported as 40–80% of adults with MEN1 and pNETs are frequently multifocal. Guidelines recommend that CT, MRI and endoscopic ultrasound (EUS) can be used for detection and surveillance of pNETs in MEN1. MRI has been the most commonly used modality, but EUS may be more sensitive in detecting pNETs.Objective: To compare the sen...

Background: There is no consensus on the optimal timing of surgery for primary hyperparathyroidism (PHPT) in MEN1. Experienced centres recommend subtotal or total parathyroid surgery with three and a half gland surgery along with thymic removal as a favoured procedure; but long-term outcomes have rarely been reported.Objective: To investigate the indications and outcomes for surgery in patients with PHPT in MEN1Methods: Review of c...

Disorders of sex development (DSD) are a collection of rare congenital conditions with diverse features and pathophysiology. Patients usually present at birth with atypical genitalia or with delayed puberty in adolescence. Biochemical and cytogenetic investigations may provide guidance on the underlying cause, however molecular genetic analysis is usually required to provide a definitive diagnosis and allows for personalised management of the patient. The current diagnostic se...

Introduction: Familial dysalbuminemic hyperthyroxinemia (FDH) is characterized by artefactual hyperthyroxinemia caused by enhanced binding affinity of thyroxine to the mutant albumin. However little is known about how FDH affects the measurement of thyroid hormones, especially FT3, across many assay platforms.Methods: Forty-eight genetically confirmed FDH patients (R218H mutation) had FT4 and FT3 measured with 1-step (ADVIA CENTAUR®, Siem...

Germline mutations account for hereditary phaeochromocytoma (PCC) and paraganglioma (PGL) syndromes. SDHB immunostaining can be used to functionally characterise SDH status on PCC and PGL tumours. Genetic testing of multiple candidate genes is increasingly performed in patients presenting with PCC/PGL tumours. We investigated the effectiveness of SDHB immunostaining as an initial screening tool in identifying SDH mutations.This was a retrospecti...